Variant report

Variant	rs17835647
Chromosome Location	chr14:69274654-69274655
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68405658..68408648-chr14:69273942..69276628,2	MCF-7	breast:
2	chr14:69273277..69275385-chr14:69276944..69279019,2	K562	blood:
3	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10136476	0.81[EUR][1000 genomes]
rs10139345	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10142466	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143060	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10143220	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10873217	0.84[EUR][1000 genomes]
rs11158767	0.84[EUR][1000 genomes]
rs11625403	0.85[EUR][1000 genomes]
rs11626883	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889006	0.87[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs1465788	0.87[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1595260	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1595261	0.90[ASN][1000 genomes]
rs168961	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17106304	0.90[ASN][1000 genomes]
rs17835641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836984	0.93[ASN][1000 genomes]
rs194746	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs194747	0.96[CEU][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs194748	0.93[ASN][1000 genomes]
rs194749	0.98[ASN][1000 genomes]
rs194751	0.90[ASN][1000 genomes]
rs194778	0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2236262	0.87[ASW][hapmap];0.93[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236263	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs34489253	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36132266	0.82[AMR][1000 genomes]
rs367677	0.90[ASN][1000 genomes]
rs3742887	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3825568	0.86[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4288924	0.83[EUR][1000 genomes]
rs4899258	0.98[ASN][1000 genomes]
rs4899259	0.93[ASN][1000 genomes]
rs4899263	0.87[EUR][1000 genomes]
rs4899264	0.83[EUR][1000 genomes]
rs4902647	0.91[GIH][hapmap]
rs4902651	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902653	0.84[EUR][1000 genomes]
rs4902654	0.85[EUR][1000 genomes]
rs6573857	0.87[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs7142145	0.85[EUR][1000 genomes]
rs7142589	0.85[EUR][1000 genomes]
rs7149042	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7149271	0.98[ASN][1000 genomes]
rs7156516	0.93[ASN][1000 genomes]
rs8011558	0.88[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs8022092	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs927292	0.94[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17835647	ZFP36L1	cis	lesional skin	skin_eQTL
rs17835647	ZFP36L1	cis	normal skin	skin_eQTL
rs17835647	ZFP36L1	cis	uninvolved skin	skin_eQTL
rs17835647	FUT8	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69264200-69277800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:69264400-69281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:69271400-69277000	Enhancers	Colon Smooth Muscle	Colon
4	chr14:69271600-69281200	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69271600-69281200	Enhancers	Fetal Stomach	stomach
6	chr14:69271800-69275600	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr14:69271800-69277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69272200-69275200	Enhancers	Small Intestine	intestine
9	chr14:69272200-69275400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr14:69272200-69275800	Enhancers	Stomach Mucosa	stomach
11	chr14:69272200-69277000	Enhancers	Placenta	Placenta
12	chr14:69272400-69274800	Enhancers	NHLF	lung
13	chr14:69272400-69275000	Enhancers	Fetal Intestine Small	intestine
14	chr14:69272400-69276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:69272400-69278600	Enhancers	Fetal Muscle Trunk	muscle
16	chr14:69272400-69279200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:69272800-69275400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:69272800-69276800	Enhancers	Primary B cells from cord blood	blood
19	chr14:69272800-69277200	Enhancers	Fetal Intestine Large	intestine
20	chr14:69272800-69277200	Enhancers	Pancreas	Pancrea
21	chr14:69273000-69274800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:69273000-69274800	Enhancers	Primary hematopoietic stem cells	blood
23	chr14:69273000-69274800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr14:69273000-69275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69273000-69275200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr14:69273000-69276600	Enhancers	Ovary	ovary
27	chr14:69273200-69274800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr14:69273200-69274800	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:69273200-69274800	Enhancers	Fetal Lung	lung
30	chr14:69273200-69274800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:69273200-69274800	Enhancers	HSMM	muscle
32	chr14:69273200-69275000	Enhancers	Left Ventricle	heart
33	chr14:69273200-69275200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:69273200-69275400	Enhancers	Liver	Liver
35	chr14:69273200-69275600	Enhancers	Colonic Mucosa	Colon
36	chr14:69273200-69275800	Enhancers	Esophagus	oesophagus
37	chr14:69273200-69275800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:69273200-69276400	Enhancers	Adipose Nuclei	Adipose
39	chr14:69273200-69276400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr14:69273200-69276600	Enhancers	Spleen	Spleen
41	chr14:69273200-69276800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:69273200-69277200	Enhancers	Lung	lung
43	chr14:69273400-69275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:69273400-69275800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr14:69273800-69274800	Weak transcription	Gastric	stomach
46	chr14:69273800-69275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:69274000-69274800	Enhancers	A549	lung
48	chr14:69274000-69275400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:69274000-69277000	Enhancers	Rectal Smooth Muscle	rectum
50	chr14:69274000-69278400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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